Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R50L

APOE

2,396 papers

RefSeq Summary

The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich li...

Pfam Domains

Apolipoproteinaa 81–288UCSCApolipoprotein A1/A4/E domain
Apolipoproteinaa 81–288UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein E

HGNC Previous Symbol

AD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000041.4
p.R50L
c.149G>T
Surrounding Variants
7 papers
NM_000041.4
p.R50H
c.149G>A
1 paper
NM_000041.4
p.R50P
c.149G>C
1 paper
NM_000041.4
p.R50S
c.148C>A
1 paper
NM_000041.4
p.F51insFs
c.151dupT
1 paper
NM_000041.4
p.R50G
c.148C>G
10 papers
NM_000041.4
p.R50C
c.148C>T
4 papers
NM_000041.4
p.R50R
c.150C>T
1 paper
NM_000041.4
p.G49S
c.145G>A
1 paper
NM_000041.4
p.G49fs
c.145_146fs
1 paper
NM_000041.4
p.G49C
c.145G>T
1 paper
NM_000041.4
p.G49fs
c.145_146fs
1 paper
NM_000041.4
p.W52R
c.154T>A
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